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. 2024 Apr 30;14(5):484.
doi: 10.3390/jpm14050484.

Molecular Profile of Important Genes for Radiogenomics in the Amazon Indigenous Population

Milena Cardoso de Lima  1 , Cinthia Costa de Castro  1 , Kaio Evandro Cardoso Aguiar  1 , Natasha Monte  1 , Giovanna Gilioli da Costa Nunes  1 , Ana Caroline Alves da Costa  1 , Juliana Carla Gomes Rodrigues  1 , João Farias Guerreiro  1   2 , Ândrea Ribeiro-Dos-Santos  2 , Paulo Pimentel de Assumpção  1 , Rommel Mario Rodríguez Burbano  1 , Marianne Rodrigues Fernandes  1 , Sidney Emanuel Batista Dos Santos  1   2 , Ney Pereira Carneiro Dos Santos  1
Affiliations

Molecular Profile of Important Genes for Radiogenomics in the Amazon Indigenous Population

Milena Cardoso de Lima et al. J Pers Med. .

Abstract

Radiotherapy is focused on the tumor but also reaches healthy tissues, causing toxicities that are possibly related to genomic factors. In this context, radiogenomics can help reduce the toxicity, increase the effectiveness of radiotherapy, and personalize treatment. It is important to consider the genomic profiles of populations not yet studied in radiogenomics, such as the indigenous Amazonian population. Thus, our objective was to analyze important genes for radiogenomics, such as ATM, TGFB1, RAD51, AREG, XRCC4, CDK1, MEG3, PRKCE, TANC1, and KDR, in indigenous people and draw a radiogenomic profile of this population. The NextSeq 500® platform was used for sequencing reactions; for differences in the allelic frequency between populations, Fisher's Exact Test was used. We identified 39 variants, 2 of which were high impact: 1 in KDR (rs41452948) and another in XRCC4 (rs1805377). We found four modifying variants not yet described in the literature in PRKCE. We did not find any variants in TANC1-an important gene for personalized medicine in radiotherapy-that were associated with toxicities in previous cohorts, configuring a protective factor for indigenous people. We identified four SNVs (rs664143, rs1801516, rs1870377, rs1800470) that were associated with toxicity in previous studies. Knowing the radiogenomic profile of indigenous people can help personalize their radiotherapy.

Keywords: exome; genetic variants; indigenous population; oncology; radiogenomics; radiotherapy.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
The relative contributions of variants discriminated according to high, modifier, or moderate impact in the AREG, ATM, KDR, MEG3, PRKCE, RAD51, TGFB1, TANC1, and XRCC4 genes.
Figure 2
Figure 2
Differences in allele frequencies of the variants studied in the continental populations and indigenous population, plotted on an MDS.
See this image and copyright information in PMC

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